Author Archives: Jose Marques Lopes PhD

Restoring Protein’s Levels May Correct Frataxin Deficiency and Mitochondrial Changes in FA, Study Suggests

Increasing the amount of a protein called GRP75 repairs the characteristic Friedreich’s ataxia (FA) frataxin deficiency and mitochondrial alterations, according to a study in patient-derived and mouse cells. The study, “GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich Ataxia cellular models,” was published in the…

Fly Study Identifies Two Medications That May Be Cardioprotective for FA Patients

Pharmacological screening in a fly cardiac model of Friedreich’s ataxia (FA) identified 11 potentially protective compounds. The two most promising are the anti-inflammatory Azulfidine (sulfasalazine)  and the antidepressant Luvox (fluvoxamine), according to the researchers. The study “Identification of cardioprotective drugs by medium-scale in vivo pharmacological screening on a Drosophila cardiac model…

Antioxidants Increase Frataxin Levels in Friedreich’s Ataxia Cells, Study Reports

Specific antioxidant compounds and derivatives were able to boost levels of the protein frataxin in cells from Friedreich’s ataxia (FA) patients, according to researchers from Arizona State University in Tempe. Their study, “Phenothiazine antioxidants increase mitochondrial biogenesis and frataxin levels in Friedreich’s ataxia cells,” appeared in the journal …

Breath Testing Shows Promise as Reliable, Simple Method for Diagnosing FA, Other Diseases

Breath testing holds potential as an accurate, simple, and noninvasive diagnostic tool for Friedreich’s ataxia (FA) and other neurodegenerative diseases, a review suggests. The study, “Emergence of breath testing as a new non-invasive diagnostic modality for neurodegenerative diseases,” appeared in the journal Brain Research. Neurodegenerative diseases typically progress…

Clinical Management of Adult Siblings with FA Described in Case Report

The clinical management of two siblings with Friedreich’s ataxia (FA) involved multiple approaches, including physical and occupational therapy, medications, orthopedic devices, and nutritional supplements, according to a report from clinicians in Greece. Both siblings have musculoskeletal deformities and are wheelchair-bound. The study, “Clinical management of Friedreich’s Ataxia: a report…

FA Patients Show Gradual Worsening of Certain Auditory Responses, Study Says

Researchers have found that patients with Friedreich’s ataxia (FA) show progressive deterioration of auditory neural responses to ongoing acoustic stimulation. The study titled “Rapid exhaustion of auditory neural conduction in a prototypical mitochondrial disease, Friedreich ataxia,” was published in the journal Clinical Neurophysiology. Patients with auditory neuropathy…

New Analytical Method Reliably Detects Frataxin, Researchers Report

Researchers are developing a new analytical method, using patients’ platelets, that enables rigorous quantification of frataxin, the protein lacking in patients with Friedreich’s ataxia (FA). Findings of the study ”Liquid Chromatography-High Resolution Mass Spectrometry Analysis of Platelet Frataxin as a Protein Biomarker for the Rare Disease Friedreich’s Ataxia,” were…

Turkish Scientists Find Signs of FA and SCA in Patients Diagnosed with Hereditary Cerebellar Ataxia

A Turkish study has classified the genetic and observable characteristics of Friedreich’s ataxia (FA) and spinocerebellar ataxia (SCA) in patients diagnosed with hereditary cerebellar ataxia. The study, “Determination of Genotypic and Phenotypic Characteristics of Friedreich’s Ataxia and Autosomal Dominant Spinocerebellar Ataxia Types 1, 2, 3, and 6”, appeared in the…